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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
See this aricle in Pubmed

Article Abstract
The study demonstrates that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing FXTAS. Since male premutation carriers are relatively common in the general population, older men with ataxia and intention tremor should be screened for the FMR1 mutation, especially if these signs are accompanied by parkinsonism, autonomic dysfunction, or cognitive decline, regardless of family history.
 
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ataxia
ataxia,cerebellar
ataxic gait
autonomic dysfunction
Fragile-X associated tremor/ataxia-syndrome
fragile-X syndrome
fragile-X syndrome,carrier
gait disorder
gene mutation
genetic screening
intellectual deficit
memory,impairment of
middle cerebellar peduncle
movement disorder
muscle weakness,proximal
Parkinsonism syndrome
tremor
tremor,intention
trinucleotide repeats

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